Mayer-Rokitansky-Küster-Hauser Syndrome

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Mayer-Rokitansky-Küster-Hauser Syndrome is not the name you expected.

Disorder Subdivisions

None

General Discussion

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder that affects women. It is characterized by the failure of the uterus and the vagina to develop properly in women who have normal ovarian function and normal external genitalia. Women with this disorder develop normal secondary sexual characteristics during puberty (e.g., breast development and pubic hair), but do not have a menstrual cycle (primary amenorrhea). Often, the failure to begin the menstrual cycle is the initial clinical sign of MRKH syndrome. The range and severity of MRKH syndrome can vary greatly and the disorder is generally broken down into type I, which occurs as an isolated finding, and type II, which occurs with abnormalities of additional organ systems including mainly the kidneys and the skeleton. Because of the nature of the disorder, MRKH syndrome can cause significant psychological challenges and counseling is recommended. The exact cause of MRKH syndrome remains largely unknown, but there is now no doubt of a genetic origin. In this respect, an update on the most recent research publications shows the involvement of several chromosomal segments, some of them including genes likely to account for the disorder.

Supporting Organizations

AIS-DSD Support Group

P.O. Box 2148

Duncan, OK 73534-2148

USA

Email: info@aisdsd.org

Website: http://www.aisdsd.org

Accord Alliance

531 Route 22 East #244

Whitehouse Station, NJ 08889

USA

Tel: (908) 349-0534

Fax: (801) 349-0534

Email: janet.green@accordalliance.org

Website: http://www.accordalliance.org

Beautiful You MRKH Foundation, Inc.

3811 Woodridge Ave.

Silver Spring, MD 20902

USA

Tel: 765-337-8683

Email: bymrkh@gmail.com

Website: http://www.beautifulyoumrkh.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

MAGIC Foundation

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423

Email: mary@magicfoundation.org

Website: http://www.magicfoundation.org

NIH/National Kidney and Urologic Diseases Information Clearinghouse

3 Information Way

Bethesda, MD 20892-3580

Fax: (703)738-4929

Tel: (800)891-5390

Email: nkudic@info.niddk.nih.gov

Website: http://www.kidney.niddk.nih.gov/

National Kidney Foundation

30 East 33rd Street

New York, NY 10016

Tel: (212)889-2210

Fax: (212)689-9261

Tel: (800)622-9010

Email: info@kidney.org

Website: http://www.kidney.org

RESOLVE: National Infertility Association

1760 Old Meadow Rd

Suite 500

McLean, VA 22102

Tel: (703)556-7172

Fax: (703)506-3266

Email: info@resolve.org

Website: http://www.resolve.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 7/4/2014Copyright 2014 National Organization for Rare Disorders, Inc.

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